View clinical trials related to Spinal Muscular Atrophy.
Filter by:This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.
This is a longitudinal, multiple-center, observational study of patients genetically confirmed chromosome 5q SMA to monitor the efficacy, safety, tolerability of SPINRAZA® (nusinersen) for up to 24 months.
This Phase 3 trial (Study SRK-015-003) is being conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and are receiving an approved survival motor neuron (SMN) upregulator therapy (i.e., either nusinersen or risdiplam), to confirm the efficacy and safety of apitegromab as an adjunctive therapy to nusinersen and evaluate the efficacy and safety of apitegromab as an adjunctive therapy to risdiplam.
For children who use a power wheelchair, a powered wheelchair standing device (PWSD) may be considered for daily use. A PWSD allows a child to electronically move between sitting and standing and can be driven in either position. Existing published PWSD research in pediatrics is limited to boys with Duchenne muscular dystrophy (DMD).(1, 2) While these studies provide some insights into PWSD use in boys with DMD, they do not reflect PWSD use in children with other conditions. The purpose of this exploratory study is to determine the feasibility of a research protocol exploring use of a PWSD in children who have neurodevelopmental conditions other than DMD.
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.
The primary objective of the study is to explore the convergent validity of smartphone-based Konectom DOAs against in-clinic standard assessments. The secondary objectives of this study are to evaluate the test-retest reliability of smartphone-based Konectom Digital Outcome Assessments (DOAs); to determine the relationship between Konectom upper limb DOAs and conventional upper limb assessments in clinical environments; to determine the relationship between Konectom lower limb DOAs and status of ambulation in clinical environments; to evaluate group differences in smartphone-based Konectom DOAs [self-administered at home and in-clinic] between person with spinal muscular atrophy (PwSMA) and healthy subjects (HS); to evaluate the variability of Konectom DOAs self-administered in everyday environment in HS and PwSMA; to compare Konectom DOAs between in-clinic supervised administration versus self-assessments in everyday environment in HS, PwSMA groups; to evaluate the relationship of Konectom DOAs against patient-reported outcomes (PROs) in PwSMA and to evaluate the clinical safety of Konectom in PwSMA.
The primary objective of this study is to evaluate motor function following treatment with HD nusinersen in participants with spinal muscular atrophy (SMA) previously treated with risdiplam. The secondary objective of this study is to evaluate the safety and tolerability of HD nusinersen in participants with SMA previously treated with risdiplam.
The Synchron Motor Neuroprosthesis (MNP) is intended to be used in subjects with severe motor impairment, unresponsive to medical or rehabilitative therapy and a persistent functioning motor cortex. The purpose of this research is to evaluate safety and feasibility. The MNP is a type of implantable brain computer interface which bypasses dysfunctional motor neurons. The device is designed to restore the transmission of neural signal from the cerebral cortex utilized for neuromuscular control of digital devices, resulting in a successful execution of non-mechanical digital commands.
The Synchron motor neuroprosthesis (MNP) is intended to be used in subjects with severe motor impairment, unresponsive to medical or rehabilitative therapy and a persistent functioning motor cortex. The purpose of this research is to evaluate safety and feasibility. The MNP is a type of implantable brain computer interface which bypasses dysfunctional motor neurons. The device is designed to restore the transmission of neural signal from the cerebral cortex utilized for neuromuscular control of digital devices, resulting in a successful execution of non-mechanical digital commands.
Acti-SMA is a multi-centric academic study. It aims to monitor the progress of patients with spinal muscular atrophy under treatment with Spinraza° or risdiplam. First, we want to quantify improvement of both ambulant and non-ambulant patients under treatment. A secondary objective would also be to identify suitable accelerometric measurements that are sensitive to change but also well correlated to other clinical scores.